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Gene: CA5A |
Gene summary for CA5A |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CA5A | Gene ID | 763 |
| Gene name | carbonic anhydrase 5A | |
| Gene Alias | CA5 | |
| Cytomap | 16q24.2 | |
| Gene Type | protein-coding | GO ID | GO:0006730 | UniProtAcc | P35218 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 763 | CA5A | HTA11_3410_2000001011 | Human | Colorectum | AD | 2.96e-08 | 1.97e-01 | 0.0155 |
| 763 | CA5A | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.40e-10 | 2.97e-01 | -0.1808 |
| 763 | CA5A | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.72e-02 | 2.69e-01 | 0.0216 |
| 763 | CA5A | HTA11_1938_2000001011 | Human | Colorectum | AD | 2.29e-07 | 2.87e-01 | -0.0811 |
| 763 | CA5A | HTA11_78_2000001011 | Human | Colorectum | AD | 4.33e-07 | 2.59e-01 | -0.1088 |
| 763 | CA5A | HTA11_347_2000001011 | Human | Colorectum | AD | 1.02e-18 | 3.54e-01 | -0.1954 |
| 763 | CA5A | HTA11_411_2000001011 | Human | Colorectum | SER | 4.47e-04 | 3.21e-01 | -0.2602 |
| 763 | CA5A | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.68e-14 | 5.00e-01 | -0.1207 |
| 763 | CA5A | HTA11_83_2000001011 | Human | Colorectum | SER | 1.39e-12 | 3.85e-01 | -0.1526 |
| 763 | CA5A | HTA11_696_2000001011 | Human | Colorectum | AD | 1.10e-24 | 5.70e-01 | -0.1464 |
| 763 | CA5A | HTA11_866_2000001011 | Human | Colorectum | AD | 1.86e-20 | 4.45e-01 | -0.1001 |
| 763 | CA5A | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.31e-17 | 4.26e-01 | -0.059 |
| 763 | CA5A | HTA11_546_2000001011 | Human | Colorectum | AD | 1.71e-09 | 4.70e-01 | -0.0842 |
| 763 | CA5A | HTA11_7862_2000001011 | Human | Colorectum | AD | 6.48e-04 | 2.77e-01 | -0.0179 |
| 763 | CA5A | HTA11_866_3004761011 | Human | Colorectum | AD | 1.09e-08 | 2.39e-01 | 0.096 |
| 763 | CA5A | HTA11_8622_2000001021 | Human | Colorectum | SER | 1.05e-03 | 2.97e-01 | 0.0528 |
| 763 | CA5A | HTA11_7663_2000001011 | Human | Colorectum | SER | 5.19e-04 | 3.24e-01 | 0.0131 |
| 763 | CA5A | HTA11_10623_2000001011 | Human | Colorectum | AD | 4.62e-05 | 2.89e-01 | -0.0177 |
| 763 | CA5A | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.58e-07 | 2.83e-01 | 0.0338 |
| 763 | CA5A | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.59e-11 | 2.75e-01 | 0.0674 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer |
| ∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| Tissue | Disease Stage | Enriched GO biological Processes |
| Colorectum | AD |  |
| Colorectum | SER |  |
| Colorectum | MSS |  |
| Colorectum | MSI-H |  |
| Colorectum | FAP |  |
| ∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0006730 | Colorectum | AD | one-carbon metabolic process | 18/3918 | 40/18723 | 5.36e-04 | 5.74e-03 | 18 |
| GO:00067301 | Colorectum | SER | one-carbon metabolic process | 15/2897 | 40/18723 | 5.71e-04 | 7.86e-03 | 15 |
| GO:00067302 | Colorectum | MSS | one-carbon metabolic process | 15/3467 | 40/18723 | 3.72e-03 | 2.73e-02 | 15 |
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| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
| ∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
| CA5A | SNV | Missense_Mutation | rs570682941 | c.869N>A | p.Arg290Gln | p.R290Q | P35218 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A1-A0SP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | SD | |
| CA5A | SNV | Missense_Mutation | rs142182110 | c.514N>A | p.Val172Met | p.V172M | P35218 | protein_coding | tolerated(0.52) | benign(0.001) | TCGA-AR-A5QP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
| CA5A | insertion | In_Frame_Ins | novel | c.314_315insGATACAAACCAGTCCCCATTTTACAGATGT | p.Glu105_Phe106insIleGlnThrSerProHisPheThrAspVal | p.E105_F106insIQTSPHFTDV | P35218 | protein_coding | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| CA5A | insertion | Nonsense_Mutation | novel | c.323_324insGGGGGCCCCAGGGGAATCCTGATACTAC | p.Asp108GlufsTer8 | p.D108Efs*8 | P35218 | protein_coding | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| CA5A | SNV | Missense_Mutation | rs747207741 | c.703N>C | p.Thr235Pro | p.T235P | P35218 | protein_coding | deleterious(0.02) | probably_damaging(0.994) | TCGA-C5-A8YR-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
| CA5A | SNV | Missense_Mutation | c.781G>A | p.Ala261Thr | p.A261T | P35218 | protein_coding | tolerated(0.2) | benign(0.175) | TCGA-AM-5821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CA5A | SNV | Missense_Mutation | rs373280084 | c.692N>T | p.Ala231Val | p.A231V | P35218 | protein_coding | deleterious(0.05) | benign(0.184) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| CA5A | SNV | Missense_Mutation | c.482N>A | p.Ser161Tyr | p.S161Y | P35218 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-AG-A002-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| CA5A | SNV | Missense_Mutation | c.489N>C | p.Lys163Asn | p.K163N | P35218 | protein_coding | deleterious(0.02) | possibly_damaging(0.869) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| CA5A | SNV | Missense_Mutation | novel | c.98N>T | p.Trp33Leu | p.W33L | P35218 | protein_coding | tolerated(0.74) | benign(0.047) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 763 | CA5A | ENZYME, DRUGGABLE GENOME | activator | 178100344 | HISTIDINE | |
| 763 | CA5A | ENZYME, DRUGGABLE GENOME | activator | 178101506 | AMPHETAMINE | |
| 763 | CA5A | ENZYME, DRUGGABLE GENOME | activator | 135651493 | HISTAMINE | |
| 763 | CA5A | ENZYME, DRUGGABLE GENOME | inhibitor | CHEMBL18 | ETHOXZOLAMIDE |
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